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Article

Impaired dynamics of the late endosome/lysosome compartment in human Niemann-Pick type C skin fibroblasts carrying mutation in NPC1 gene.

Molecular bioSystems - 1 Apr 2012

Sztolsztener Malgorzata E, Dobrzyn Agnieszka, Pikula Slawomir, Tylki-Szymanska Anna, Bandorowicz-Pikula Joanna

Abstract excerpt

The Niemann-Pick type C (NPC) disease is characterized by accumulation of lipids within the late endosome/lysosome (LE/LY) compartment as a result of dysfunctions of the NPC1 or NPC2 proteins and an altered distribution and/or functioning of proteins involved in the regulation of membrane dynamics. In our previous report we isolated membranes of the LE/LY compartment from NPC L1 skin fibroblasts with a mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22286891
DOI: 10.1039/c2mb05447g

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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